CLINICAL TRIAL OF GENE THERAPY FOR ADA-DEFICIENT SCID

ADA-deficient severe combined immunodeficiency (SCID) was the first genetic disease treated with gene therapy. The lack of the ADA enzyme is responsible for the severely depressed immune responses to infectious agents observed in these children since the first months of their life. Patients affected by ADA-SCID fail to thrive and suffer from severe and repeated infections, which are often fatal. Our Institute has been among the pioneers in the development of gene therapy for ADA-SCID. Since year 2000, we have treated 6 patients with engineered bone marrow stem cells (the "mothers" of all blood cells), obtaining main corrections of the disease alterations, with sustained clinical benefit, and no side effects. Based on these results the European Medicines Agency (EMEA) has recently designated our gene therapy approach the first European “Orphan Drug” for ADA-SCID. The aim of the present clinical research protocol is to further demonstrate the safety and efficacy of gene therapy for ADA-SCID and to achieve recognition from the regulatory authorities of gene therapy as standard treatment. We will provide care to patients undergoing gene therapy in the dedicated Pediatric Clinical Research Unit, and we will perform extensive laboratory and clinical follow up studies to evaluate the outcome of the treatment. This trial has and will continue to pave the way for future clinical applications of gene therapy in other genetic disorders of the hematopoietic systems.